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Protein

Claudin-4

Gene

CLDN4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a major role in tight junction-specific obliteration of the intercellular space.By similarity

GO - Molecular functioni

  • identical protein binding Source: UniProtKB
  • structural molecule activity Source: InterPro
  • transmembrane signaling receptor activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-32186-MONOMER.
ReactomeiR-HSA-420029. Tight junction interactions.

Protein family/group databases

TCDBi1.H.1.1.6. the claudin tight junction (claudin1) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Claudin-4
Alternative name(s):
Clostridium perfringens enterotoxin receptor
Short name:
CPE-R
Short name:
CPE-receptor
Williams-Beuren syndrome chromosomal region 8 protein
Gene namesi
Name:CLDN4
Synonyms:CPER, CPETR1, WBSCR8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:2046. CLDN4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Topological domaini29 – 81ExtracellularSequence analysisAdd BLAST53
Transmembranei82 – 102HelicalSequence analysisAdd BLAST21
Topological domaini103 – 117CytoplasmicSequence analysisAdd BLAST15
Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Topological domaini139 – 160ExtracellularSequence analysisAdd BLAST22
Transmembranei161 – 181HelicalSequence analysisAdd BLAST21
Topological domaini182 – 209CytoplasmicSequence analysisAdd BLAST28

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • apicolateral plasma membrane Source: Ensembl
  • basal plasma membrane Source: Ensembl
  • bicellular tight junction Source: UniProtKB
  • integral component of plasma membrane Source: UniProtKB
  • lateral plasma membrane Source: Ensembl
  • plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Involvement in diseasei

CLDN4 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi208Y → F: Loss of phosphorylation by EPHA2. 1 Publication1

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

DisGeNETi1364.
OpenTargetsiENSG00000189143.
PharmGKBiPA26572.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001447431 – 209Claudin-4Add BLAST209

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei208Phosphotyrosine; by EPHA21 Publication1

Post-translational modificationi

Phosphorylated. Phosphorylation by EPHA2 is stimulated by EFNA1 and alters interaction with TJP1.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO14493.
PeptideAtlasiO14493.
PRIDEiO14493.

PTM databases

iPTMnetiO14493.
PhosphoSitePlusiO14493.

Expressioni

Gene expression databases

BgeeiENSG00000189143.
CleanExiHS_CLDN4.
ExpressionAtlasiO14493. baseline and differential.
GenevisibleiO14493. HS.

Organism-specific databases

HPAiCAB002610.
HPA007322.

Interactioni

Subunit structurei

Directly interacts with TJP1/ZO-1, TJP2/ZO-2 and TJP3/ZO-3. Interacts with EPHA2; phosphorylates CLDN4 and may regulate tight junctions.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107756. 2 interactors.
IntActiO14493. 2 interactors.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5B2GX-ray3.50A/C/E/G1-183[»]
ProteinModelPortaliO14493.
SMRiO14493.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 103Interaction with EPHA21 PublicationAdd BLAST103
Regioni208 – 209Interactions with TJP1, TJP2 and TJP3By similarity2

Sequence similaritiesi

Belongs to the claudin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IIJR. Eukaryota.
ENOG410YA61. LUCA.
GeneTreeiENSGT00760000118928.
HOGENOMiHOG000220937.
HOVERGENiHBG000643.
InParanoidiO14493.
KOiK06087.
OMAiTAHNVIR.
OrthoDBiEOG091G0MMR.
PhylomeDBiO14493.
TreeFamiTF331936.

Family and domain databases

InterProiIPR006187. Claudin.
IPR003550. Claudin4.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERiPTHR12002. PTHR12002. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01379. CLAUDIN4.
PROSITEiPS01346. CLAUDIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O14493-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASMGLQVMG IALAVLGWLA VMLCCALPMW RVTAFIGSNI VTSQTIWEGL
60 70 80 90 100
WMNCVVQSTG QMQCKVYDSL LALPQDLQAA RALVIISIIV AALGVLLSVV
110 120 130 140 150
GGKCTNCLED ESAKAKTMIV AGVVFLLAGL MVIVPVSWTA HNIIQDFYNP
160 170 180 190 200
LVASGQKREM GASLYVGWAA SGLLLLGGGL LCCNCPPRTD KPYSAKYSAA

RSAAASNYV
Length:209
Mass (Da):22,077
Last modified:January 1, 1998 - v1
Checksum:i0659A93AA5F0E4C5
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB000712 mRNA. Translation: BAA22984.1.
BT006989 mRNA. Translation: AAP35635.1.
BC000671 mRNA. Translation: AAH00671.1.
CCDSiCCDS5560.1.
RefSeqiNP_001296.1. NM_001305.4.
UniGeneiHs.647036.
Hs.729359.

Genome annotation databases

EnsembliENST00000340958; ENSP00000342445; ENSG00000189143.
ENST00000431918; ENSP00000388639; ENSG00000189143.
ENST00000435050; ENSP00000409544; ENSG00000189143.
GeneIDi1364.
KEGGihsa:1364.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB000712 mRNA. Translation: BAA22984.1.
BT006989 mRNA. Translation: AAP35635.1.
BC000671 mRNA. Translation: AAH00671.1.
CCDSiCCDS5560.1.
RefSeqiNP_001296.1. NM_001305.4.
UniGeneiHs.647036.
Hs.729359.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5B2GX-ray3.50A/C/E/G1-183[»]
ProteinModelPortaliO14493.
SMRiO14493.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107756. 2 interactors.
IntActiO14493. 2 interactors.

Protein family/group databases

TCDBi1.H.1.1.6. the claudin tight junction (claudin1) family.

PTM databases

iPTMnetiO14493.
PhosphoSitePlusiO14493.

Proteomic databases

PaxDbiO14493.
PeptideAtlasiO14493.
PRIDEiO14493.

Protocols and materials databases

DNASUi1364.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340958; ENSP00000342445; ENSG00000189143.
ENST00000431918; ENSP00000388639; ENSG00000189143.
ENST00000435050; ENSP00000409544; ENSG00000189143.
GeneIDi1364.
KEGGihsa:1364.

Organism-specific databases

CTDi1364.
DisGeNETi1364.
GeneCardsiCLDN4.
HGNCiHGNC:2046. CLDN4.
HPAiCAB002610.
HPA007322.
MIMi602909. gene.
neXtProtiNX_O14493.
OpenTargetsiENSG00000189143.
PharmGKBiPA26572.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIJR. Eukaryota.
ENOG410YA61. LUCA.
GeneTreeiENSGT00760000118928.
HOGENOMiHOG000220937.
HOVERGENiHBG000643.
InParanoidiO14493.
KOiK06087.
OMAiTAHNVIR.
OrthoDBiEOG091G0MMR.
PhylomeDBiO14493.
TreeFamiTF331936.

Enzyme and pathway databases

BioCyciZFISH:G66-32186-MONOMER.
ReactomeiR-HSA-420029. Tight junction interactions.

Miscellaneous databases

ChiTaRSiCLDN4. human.
GeneWikiiCLDN4.
GenomeRNAii1364.
PROiO14493.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000189143.
CleanExiHS_CLDN4.
ExpressionAtlasiO14493. baseline and differential.
GenevisibleiO14493. HS.

Family and domain databases

InterProiIPR006187. Claudin.
IPR003550. Claudin4.
IPR017974. Claudin_CS.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERiPTHR12002. PTHR12002. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01379. CLAUDIN4.
PROSITEiPS01346. CLAUDIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCLD4_HUMAN
AccessioniPrimary (citable) accession number: O14493
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: November 30, 2016
This is version 141 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.